Tuesday, October 18, 2011

I have known for a while now that there would come a time I would have to/need to write this post. I didn't know exactly what it would say or how I would feel. And I didn't know what the "answer" would be. But I did know...

When Ava was born, we thought she was perfect- and still do! She was 7 lbs of pure joy and love. A "wiggle worm" from the start, we didn't worry too much (as her doctors didn't either) when her first missed milestone happened- sitting up. I was only slightly concerned, but chalked it up to her just being a busy little baby. And eventually she got it. What a joyful day that was for me. That would be the last big milestone that she would hit within the typical "window" of development.

By her 12 month checkup, I had grown very concerned about her delays. But the doctor (not our regular one) basically blew me off. But at her 15 month checkup, the pediatrician (more on that later...) *finally* agreed that YES, we needed to address her global delays (global delays are developmental delays in two or more areas. In Ava's case, speech, fine motor, gross motor, and developmental) and sent us for therapy evaluations. We had the evals done and found that she was very behind in every area and would require 6-7 hours of therapy a week. Not what a parent wants to hear. But it was okay. Most kids with global delays grow out of them and are "typical" children by the time they reach 3 or 4, provided they get early intervention. So we would have a few rough years, but we would get there. Or so I thought.
But something was still bugging me. She didn't have ANY of the risk factors for global delays. I didn't drink when I was pregnant, I had good nutrition and took prenatels everyday. Something just didn't feel right to me. I think as a mother, sometimes the Lord gives you the ability to "just know" something about your child. And I just KNEW. So we went back to the doctor. This time, we saw our doctor on record, Dr. Thompson. We had chosen him out of the clinic doctors because, of all things, he is a pilot. HA! It is amazing to me how the Lord puts people in your life before you understand the full gravity of their impact on your life. We had been "floating" around to the other pediatricians so that I would know who I like and who I don't, and because Ava just wasn't sick often, we used our well checkups to do so. So it had been probably 6 or more months since Dr. Thompson had seen her. Well come to find out, Dr. Thompson has a reputation among therapists as being one of the BEST about taking delays seriously, looking into the causes, ordering tests and conferring with specialists. And he did not disappoint! He immediately ordered a string of tests including urine and blood work ups, an EEG, and MRI, a swallow study, and he got us in to see a developmental pediatrician.

I should note at this point that everything that has happened, has happened in the last two months. And it has been an earth shaking, life altering two months. Full of fear, stress, heartache, sleepless nights, and lots of praying!

So we had our developmental pediatrician visit this past week. And she told us that she thought Ava might have a genetic syndrome called VCFS. It is the most common of all genetic syndromes and although it can make you horribly sick, Ava seemed to have a mild case and would likely just have learning issues, but that she would grow to live a normal, productive life. Ok. That is fine. I could deal with that. But there were still things that bothered me. The spitting up, for one. It still happens, at 20 months, and it just had to be related! What are the chances of a child having a semi-rare genetic disorder AND major reflux issues. And even with a mild form, she didn't seem to "fit" the typical VCFS case. I think I still knew it wasn't right...
And I was right. Yesterday around lunch, I got the call that flipped our entire world on it's head. I wasn't expecting it, honestly. But it happened. Dr. Burns called. Her genetic testing was back. The chromosome that causes VCFS was fine. But another wasn't. The 15th. A problem with the 15th Chromosome is called ANGELMAN SYNDROME. Angelman syndrome is extremely rare, only occurring in appx 1 in 30,000 live births. We are still not sure what form of Angelman Ava has because more testing and a harder look at her 15th chromosome is needed. And that will kind of help us determine the severity of her case. It is a spectrum disorder like autism, but there are some commonalities among all "Angels" like my sweet Ava.

The hardest thing, to this mommy's heart, is to accept the fact that she will never live outside of an unsupported environment. She will always need assistance. The equally as difficult thing to hear is that she will be mostly nonverbal. Angelman individuals usually only have a vocabulary of between 1-20 words and communicate with a mixture of words, sign language, and communication devices, depending on their intellectual capacity. There is a component of mental retardation, but some less severe Angelman individuals show evidence of high intelligence. The saying is "I may not speak, but I have much to say." The other worrisome thing is the seizure component to the syndrome. She hasn't started yet, but 80-90% of Angels do have some degree of seizures and because her EEG and MRI showed slight, yet nonspecific, abnormalities, we do expect them to occur. They usually start between the ages of 2-4.

As difficult as this might be to believe, Angelman isn't the worse diagnosis to hear. Don't get me wrong, it isn't the best. There are so many hopes and dreams that I have been having to let go of for my baby girl...it is gut wrenching mourning the loss of the future you thought your child had, that you wanted for them. But in the midst of that heartbreaking sadness, I am reminded of the LORDs faithfulness and love. And what a pure example of Christlike love that Angels like Ava are!

All Angels share certain characteristics regardless of their severity. And to me, the most striking characteristic, and usually the one that strangers notice first, is their overtly happy nature and love for people. That is actually part of the syndrome!!! Of all of the genetic issues that we could have had (and there are hundreds out there!), our daughter has the one that makes her happy!!! As sad as I am, I rejoice in knowing that my baby will never understand great sadness or depression or worry. You have heard the expression "it's not in her nature."? Well it really isn't in Ava's nature to feel any of those things! It is programmed into her genetic code to be happy!

When I read about Angelman Syndrome, I was astounded. It was truly as if someone had sat down with Ava and just written a syndrome based on what they observed of her! Had I known about Angelman before, I could have told them that it was what she had!

I made a list for her therapists about Angelman characteristics that Ava has, since it is a rare syndrome and they likely know nothing about it at this point.

Angel Ava:

Hyperactivity

Spitting up/severe reflux

Aggressive appetite

Frequent and inappropriate laughter and giggles

Overtly happy demeanor

Overtly social behavior

Heat intolerance

Extreme temp changes in extremities

High pain tolerance

Use of feet for play and manipulation

Love of water

Love of dogs

Excellent visual memory

Depth perception issues

Global delays

Excited “moan” or “grunt”

Some textile intolerance (mostly hair bows and shoes)

Oral sensory issues/mouthing of objects

Hair pulling

Extremely fast grabs for food, hair, glasses, etc.

We have many challenges ahead. And prayers are greatly needed and appreciated. I am sure there will be times that our Faith is what gets us through the day, and times where our Faith is tested and pushed to the edge. But a life with Angelman is also a life with a great joy and lots of laughter. And for that I am thankful. I remember a few months ago, our pastor said that "the Bible doesn't say that life is going to be good and easy. It says that the LORD will work everything for the good of those that love Him and are called to His purpose." I don't know why the Lord chose us to be Ava's parents, but I am so glad He did. She is just a joy and a precious addition to this earth. And the amazing thing about Angelman is that, regardless of her intellectual ability, she will always retain that childlike joy and purity that she has now! I know great blessings are going to come out of this diagnosis. In my true spirit of planning, I am already thinking of ways to raise awareness and money for the cause.

And there is always HOPE! A doctor in Florida has been able to actually reverse the syndrome in mice!!!! That is AMAZINGLY exciting!!! And the foundation recently won a grant that will allow the doctor to go into clinical trials for the process. He believes that the same process can also help people with autism and Alzheimer's!!!

I would also like to mention that, although we do not yet know for sure the severity of Ava's case, it does seem to us (her family and therapists) to be somewhat mild. Many Angels do not sit up until after their 1st birthday, but she was! And she seems to have very high visual memory skills (she squeals with delight when we turn onto our street! and knows exactly where the water in our house is and how to make it happen- if she gets away from me, I know that she is in our bathroom turning on the bathtub water!). She also is close to walking and cruses well for an angel, while most angels who do walk don't do so until 4 or 5. So I am hopeful in that, too.

If you would like to learn more about Angelman Syndrome, you can visit www.angelman.org. Right now, the foundation doesn't have a chapter in Arkansas, but that is probably going to change if I have anything to do with it! ;)

I would like to also thank you all for your words of encouragement, support, and love. Please understand that this has been a lot for our family to digest and process in a very short period of time, and there are many more challenging days ahead. I would be happy to answer questions...eventually. But right now I just can't. Either because it is too difficult emotionally or because I simply do not know. I hope you understand and we appreciate the continued love and support. And of course, PRAYERS!!!

5
comments:

Goodness, Rachel, that IS a lot to process in a short period of time. Your explanation and discussion of Ava's individuality is beautiful, further confirming God's wisdom in entrusting her to you. When S goes to his speech therapy three times a week, I'll do my best to use that as a reminder to pray for the Brewers. Keep us posted as you feel like it's helpful to you. Hugs. =)

Hi Rachel! My husband and I and our 2 children live in KC MO. I just saw your post on the listserve. My son turned 2 last Saturday. He is deletion +. I just wanted to say hello. Feel free to call me if you would like as we are going through many of the same things right now. Your family is beautiful. We will be praying for you guys.